ClinVar Miner

List of variants studied for arrhythmogenic right ventricular cardiomyopathy by Mendelics

Included ClinVar conditions (37):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_001005242.3(PKP2):c.1170+2T>C rs397516987
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp) rs1573923041
NM_001035.3(RYR2):c.14223_14224insTTTTT (p.His4742fs) rs1574034151
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala) rs778783933
NM_001792.5(CDH2):c.1344+1G>A rs2143975765
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_178011.5(LRRTM3):c.311C>T (p.Ala104Val) rs1589435465

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